A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519692



Internal ID15100299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30841978..30845009hg38UCSC Ensembl
Innerchr8:30699494..30702525hg19UCSC Ensembl
Innerchr8:30819036..30822067hg18UCSC Ensembl
Innerchr8:30819036..30822067hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383032
hg193032
hg183032
hg173032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696995
Samples
Known GenesTEX15
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519692
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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